Asxl1

Summary

Gene Symbol: Asxl1
Description: additional sex combs like 1, transcriptional regulator
Alias: RGD1561878, LOW QUALITY PROTEIN: putative Polycomb group protein ASXL1, additional sex combs like transcriptional regulator 1
Species: rat
Products:     Asxl1

Top Publications

  1. Thol F, Friesen I, Damm F, Yun H, Weissinger E, Krauter J, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 2011;29:2499-506 pubmed publisher
    To study the incidence and prognostic impact of mutations in Additional sex comb-like 1 (ASXL1) in a large cohort of patients with myelodysplastic syndrome (MDS)...
  2. Cho Y, Kim E, Park U, Sin H, Um S. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem. 2006;281:17588-98 pubmed
    Additional sex comb-like 1 (ASXL1, 170 kDa), a mammalian homolog of Drosophila ASX, was identified as a protein that interacts with retinoic acid receptor (RAR) in the presence of retinoic acid (RA)...
  3. Damaj G, Joris M, Chandesris O, Hanssens K, Soucie E, Canioni D, et al. ASXL1 but not TET2 mutations adversely impact overall survival of patients suffering systemic mastocytosis with associated clonal hematologic non-mast-cell diseases. PLoS ONE. 2014;9:e85362 pubmed publisher
    ..Defects in KIT, TET2, ASXL1 and CBL were positive in 87%, 27%, 14%, and 11% of cases respectively...
  4. Gelsi Boyer V, Trouplin V, Roquain J, Adélaïde J, Carbuccia N, Esterni B, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151:365-75 pubmed publisher
    ..MD-CMML) using array-comparative genomic hybridisation (aCGH) and sequencing of 13 candidate genes including ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, PTPN11, RUNX1, TET2 and WT1...
  5. Chou W, Huang H, Hou H, Chen C, Tang J, Yao M, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood. 2010;116:4086-94 pubmed publisher
    Mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies, but they have not been comprehensively investigated in acute myeloid leukemia (AML)...
  6. Stein B, Williams D, O Keefe C, Rogers O, Ingersoll R, Spivak J, et al. Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. Haematologica. 2011;96:1462-9 pubmed publisher
    ..Because ASXL1 lesions have been increasingly identified in myeloid neoplasms, we examined the relationships of ASXL1 mutation or ..
  7. Bassett J, Gogakos A, White J, Evans H, Jacques R, Van der Spek A, et al. Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength. PLoS Genet. 2012;8:e1002858 pubmed publisher
    ..Application of the approach to diseases affecting other physiological systems will help to realize the full potential of the International Mouse Phenotyping Consortium. ..
  8. Wang J, Ai X, Gale R, Xu Z, Qin T, Fang L, et al. TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes. Leuk Res. 2013;37:305-11 pubmed publisher
    ..We studied mutations in TET2, ASXL1 and EZH2 in 153 Chinese patients with MDS...
  9. Vannucchi A, Lasho T, Guglielmelli P, Biamonte F, Pardanani A, Pereira A, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27:1861-9 pubmed publisher
    ..Samples from the European cohort, collected at time of diagnosis, were analyzed for mutations in ASXL1, SRSF2, EZH2, TET2, DNMT3A, CBL, IDH1, IDH2, MPL and JAK2...

More Information

Publications15

  1. Traina F, Visconte V, Elson P, Tabarroki A, Jankowska A, Hasrouni E, et al. Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms. Leukemia. 2014;28:78-87 pubmed publisher
    ..Risk stratification models were created. TET2, DNMT3A, IDH1/IDH2, ASXL1, CBL, RAS and SF3B1 mutations were found in 18, 9, 8, 26, 3, 2 and 13% of patients, respectively...
  2. Park U, Seong M, Kim E, Hur W, Kim S, Yoon S, et al. Reciprocal regulation of LXR? activity by ASXL1 and ASXL2 in lipogenesis. Biochem Biophys Res Commun. 2014;443:489-94 pubmed publisher
    ..Here, we investigate the roles of ASXL1 and ASXL2 in regulating LXR? activity...
  3. McGinley A, Li Y, Deliu Z, Wang Q. Additional sex combs-like family genes are required for normal cardiovascular development. Genesis. 2014;52:671-86 pubmed publisher
    ..However, the majority of CHD cases have unknown etiology. Here we report the identification of ASXL2 and ASXL1, two homologous chromatin factors, as novel regulators of heart development...
  4. Park U, Yoon S, Park T, Kim E, Um S. Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}. J Biol Chem. 2011;286:1354-63 pubmed publisher
    ..In pulldown assays in vitro and in immunoprecipitation assays in vivo, ASXL1 and its paralog, ASXL2, interacted with PPAR? and PPAR?...
  5. Inoue D, Kitaura J, Togami K, Nishimura K, Enomoto Y, Uchida T, et al. Myelodysplastic syndromes are induced by histone methylation–altering ASXL1 mutations. J Clin Invest. 2013;123:4627-40 pubmed
    Recurrent mutations in the gene encoding additional sex combs-like 1 (ASXL1) are found in various hematologic malignancies and associated with poor prognosis...
  6. Fisher C, Pineault N, Brookes C, Helgason C, Ohta H, Bodner C, et al. Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115:38-46 pubmed publisher
    The Additional sex combs like 1 (Asxl1) gene is 1 of 3 mammalian homologs of the Additional sex combs (Asx) gene of Drosophila...